Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Emanuela Aliberto"'
Autor:
Celeste Casto, Valeria Dipasquale, Ida Ceravolo, Antonella Gambadauro, Emanuela Aliberto, Karol Galletta, Francesca Granata, Giorgia Ceravolo, Emanuela Falzia, Antonella Riva, Gianluca Piccolo, Maria Concetta Cutrupi, Pasquale Striano, Andrea Accogli, Federico Zara, Gabriella Di Rosa, Eloisa Gitto, Elisa Calì, Stephanie Efthymiou, Vincenzo Salpietro, Henry Houlden, Roberto Chimenz
Publikováno v:
Brain Sciences, Vol 11, Iss 9, p 1150 (2021)
Nance-Horan syndrome (NHS) is a rare X-linked developmental disorder caused mainly by loss of function variants in the NHS gene. NHS is characterized by congenital cataracts, dental anomalies, and distinctive facial features, and a proportion of the
Externí odkaz:
https://doaj.org/article/89759c36717a4e648545340fe0b0820a
Autor:
Andrea Accogli, Shenzhao Lu, Ilaria Musante, Paolo Scudieri, Jill A. Rosenfeld, Mariasavina Severino, Simona Baldassari, Michele Iacomino, Antonella Riva, Ganna Balagura, Gianluca Piccolo, Carlo Minetti, Denis Roberto, Fan Xia, Razaali Razak, Emily Lawrence, Mohamed Hussein, Emmanuel Yih-Herng Chang, Michelle Holick, Elisa Calì, Emanuela Aliberto, Rosalba De-Sarro, Antonio Gambardella, Undiagnosed Diseases Network, SYNaPS Study Group, Lisa Emrick, Peter J. A. McCaffery, Margaret Clagett-Dame, Paul C. Marcogliese, Hugo J. Bellen, Seema R. Lalani, Federico Zara, Pasquale Striano, Vincenzo Salpietro
Publikováno v:
Cerebellum (London, England).
Cerebellar hypoplasia and dysplasia encompass a group of clinically and genetically heterogeneous disorders frequently associated with neurodevelopmental impairment. The Neuron Navigator 2 (NAV2) gene (MIM: 607,026) encodes a member of the Neuron Nav
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0fe0373690b8bb8fd02fb3cd4d8dace
https://pubmed.ncbi.nlm.nih.gov/35218524
https://pubmed.ncbi.nlm.nih.gov/35218524
Autor:
Ida Ceravolo, Antonella Gambadauro, Gabriella Di Rosa, Stephanie Efthymiou, Henry Houlden, Emanuela Falzia, Emanuela Aliberto, Vincenzo Salpietro, Karol Galletta, Federico Zara, Roberto Chimenz, Andrea Accogli, Valeria Dipasquale, Antonella Riva, Elisa Cali, Maria Concetta Cutrupi, G Ceravolo, Gianluca Piccolo, Francesca Granata, Celeste Casto, Eloisa Gitto, Pasquale Striano
Publikováno v:
Brain Sciences
Volume 11
Issue 9
Brain Sciences, Vol 11, Iss 1150, p 1150 (2021)
Volume 11
Issue 9
Brain Sciences, Vol 11, Iss 1150, p 1150 (2021)
Nance-Horan syndrome (NHS) is a rare X-linked developmental disorder caused mainly by loss of function variants in the NHS gene. NHS is characterized by congenital cataracts, dental anomalies, and distinctive facial features, and a proportion of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0e03bc600e5412b704a92743f79623e
http://hdl.handle.net/11570/3212022
http://hdl.handle.net/11570/3212022
